bent bone dysplasia syndrome 2

A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in t

A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13.

Signs and symptoms

• Decreased calvarial ossification
• Ulnar bowing
• Hypoplastic acetabulae
• Osteopenia
• Ulnar deviation of the hand
• Micropenis
• Talipes equinovarus
• Short neck
• Platyspondyly
• Arthrogryposis multiplex congenita